If a variant has more than one submission, it may be counted in more than one significance column. If this is the
case, the total number of variants will be less than the sum of the other cells.
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
37
|
9
|
558
|
410
|
82
|
1092
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
NOTCH2
|
37
|
9
|
557
|
410
|
82
|
1091
|
ADAM30, HAO2, HMGCS2, HSD3B1, HSD3B2, NOTCH2, PHGDH, REG4, TBX15, WARS2, ZNF697
|
0 |
0 |
1
|
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
23
|
3
|
550
|
408
|
77
|
1061
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
7
|
Mendelics
|
1
|
0 |
1
|
2
|
2
|
6
|
Baylor Genetics
|
2
|
0 |
3
|
0 |
0 |
5
|
3billion
|
1
|
3
|
0 |
0 |
0 |
4
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
2
|
0 |
0 |
3
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
3
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
2
|
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
1
|
0 |
0 |
2
|
Metabolic Disease laboratory, Sheba Medical Center
|
2
|
0 |
0 |
0 |
0 |
2
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
1
|
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
1
|
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin
|
1
|
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
0 |
1
|
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
1
|
0 |
0 |
0 |
1
|
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